JSON

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018724


Term info

database cross reference
  • UMLS:CN242161 (MONDO:equivalentTo)
  • Orphanet:459070 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

exactMatch

http://purl.obolibrary.org/obo/Orphanet_459070, http://linkedlifedata.com/resource/umls/id/CN242161

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0018724